2009 Vienna - European Society of Human Genetics

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Cancer genetics P06.151 cancer risks associated with germline mmR gene mutations: results from a multi-center French study V. Bonadona 1,2 , E. Yhuel 3 , B. Bonaïti 4,3 , C. Lasset 1,2 , S. Olschwang 5,6 , S. Grandjouan 7 , S. Manouvrier 8 , B. Buecher 9,10 , R. Guimbaud 11,12 , M. Longy 13 , C. Noguès 14,15 , T. Frebourg 16,17 , The French Cancer Genetics Network, C. Bonaïti- Pellié 3,18 ; 1 University Lyon 1, CNRS UMR 5558, Lyon, France, 2 Centre Léon Bérard, Lyon, France, 3 INSERM U535, Villejuif, France, 4 INRA-SGQA, Jouy-en-Josas, France, 5 Institut Paoli-Calmettes, Marseille, France, 6 INSERM U891, Marseille, France, 7 APHP Cochin, Paris, France, 8 CHU, Lille, France, 9 Institut Curie, Paris, France, 10 Hopital Européen Georges Pompidou, Paris, France, 11 Insitut Claudius Regaud, Toulouse, France, 12 CHU, Toulouse, France, 13 Institut Bergonié, Bordeaux, France, 14 Centre René Huguenin, Saint-Cloud, France, 15 INSERM U735, Saint-Cloud, France, 16 INSERM U614, Rouen, France, 17 CHU, Rouen, France, 18 University Paris-Sud, Villejuif, France. Lynch syndrome is an autosomal dominant disorder caused by germline mutations of mismatch repair (MMR) genes: MLH1, MSH2 and MSH6. Mutation carriers are at high risk for colorectal and endometrial cancers, and other rarer localisations: small bowel, urologic and biliary tract, ovary and stomach. This study aimed to estimate precisely the risk for different tumors in a large sample of French families with Lynch syndrome. A total of 507 pedigrees with a MMR gene mutation (238 MLH1, 239 MSH2, 30 MSH6) and 9834 informative members were ascertained from 40 cancer family clinics in France. Cancer risks were estimated using the GRL method, based on maximum likelihood that corrected for ascertainment by conditioning on all observed phenotypes. The cumulative risks of colorectal cancer by age 70 years were 35.2 % (95% CI: 24.7-51.3) for men and 31.5 % (19.8-50.5) for women; significant risk differences were found between mutated genes (p < 0.01). MLH1 and MSH2 mutation carriers were at similar risk for colorectal cancer whereas MSH6 carriers were at markedly lower risk. Risks of endometrial and ovarian cancer were respectively 10.8% (7.6-14.3) and 4.1 % (2.7-5.5). Estimations for other localisations did not exceed 2%. Our results provide evidence for lower risk of colorectal cancer than previously published, particularly for MSH6 carriers, but also lower risk of endometrial cancer in Lynch syndrome. Their impact on the counselling and management of mutated MMR gene carriers should be taken into account. P06.152 Novel msH6 mutations in HNPcc families with endometrial cancer. M. Durán1 , L. Perez-Cabornero1 , E. Velasco1 , M. Infante1 , E. Lastra2 , D. Sanz1 , A. Acedo1 , J. Cuevas3 , L. Hernandez1 , N. Martinez1 , C. Miner1 ; 1 2 3 IBGM, valladolid, Spain, Hospital General Yagüe, Burgos, Spain, Hospital Comarcal de Medina del Campo, valladolid, Spain. Introduction: Families with germline MSH6 mutations have also shown different clinical features compared with traditional HNPCC phenotype, such as later age of cancer diagnosis, lower penetrance, and predominance of endometrial carcinomas. For women, colorectal cancer risk was significantly lower and endometrial cancer risk significantly higher in MSH6 carriers compared with MLH1 and MSH2 carriers. Objective: To determine the prevalence of MSH6 (a mismatch repair gene) mutations in a cohort of HNPCC families with endometrial cancer patients. Patients and Methods: A cohort of 20 HNPCC families who were known to the Regional Medical Genetic Counselling Unit. Molecular analysis of DNA in all participants for mutations in MSH6 by HA-CAE technique and sequencing analysis. Results: A novel truncating mutation in MSH6 was identified in a woman with breast and endometrial cancer. A novel missense mutation was identified in two families. No genomic rearrangements in MSH6 were identified. Conclusion: MSH6 mutations are more common in HNPCC families with endometrial cancer history. Genomic rearrangements do not contribute to a significant proportion of mutations in MSH6, but missense variants are relatively common and their pathogenicity can be uncertain. 00 P06.153 MUTYH associated polyposis - variable clinical phenotype and report on novel mutations M. Morak 1 , A. Laner 2 , U. Bacher 3 , E. Holinski-Feder 1,2 , German HNPCC Consortium; 1 University Hospital of the Ludwig-Maximilians-University, Munich, Germany, 2 MGZ - Center of Medical Genetics, Munich, Germany, 3 Department of Stem Cell Transplantation, University Cancer Center Hamburg, Hamburg, Germany. To further characterise 215 APC mutation-negative patients with colorectal neoplasias classified in classical, attenuated, or atypical forms of familial adenomatous polyposis coli (FAP) we performed mutation screening in the the human Mut Y homologue (MUTYH) gene. The incidence of MUTYH mutations was 15% for biallelic and 3,7% for monoallelic mutations. We found six novel MUTYH mutations and two novel monoallelic missense mutations of unclassified pathogenicity in attenuated FAP (AFAP) patients. Most of the MUTYH-associated polyposis coli (MAP) patients (57%) were AFAP patients as expected(19/33), but 10% (3/33) MAP patients displaying early-onset classical FAP and 18% (6/33) patients with only few adenomas at higher age. Biallelic cases had a high incidence of extracolonic polyposis in 32% (9/25 informative) and colorectal cancer (CRC) in 33% (11/33) of the cases. The clinical picture of MAP ranged from classical FAP or synchronous colorectal cancer (CRC) at age 30 years to few adenomas at age 54 years without evidence of CRC, initially suspected for hereditary nonpoylposis colorectal cancer (HNPCC). The mean age of onset was 43 years, with 11 (33%) patients being younger than 40 years of age, indicating that the clinical manifestation can be earlier than so far reported. Monoallelic MUTYH mutation carriers had a positive family history in seven of eight cases (86%) overlapping with HNPCC type X. This allows the hypotheses that monoallelic MUTYH mutations might 1) act as low-penetrance CRC susceptibility modifier and/or 2) cooperate in a disease-causing synergism with mutations in other gene involved e.g. in the BER pathway. P06.154 Identification of p53 gene tandem mutation and effect of its surrounding sequences during development of colon cancer A. Hossein-Nezhad 1 , F. Biramijamal 1 , S. Basatvat 1 , K. Shamimi 2 , G. Irvanloo 3 , K. Akbari 1 ; 1 NIGEB, Tehran, Islamic Republic of Iran, 2 Dept. of Surgery, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran, 3 Cancer Institute, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. Mutation in p53 tumor suppressor gene is highly frequent in different cancers. The p53 protein is considered as a key combination in countering stress messages such as DNA damage. Prevalence of somatic mutations in p53 gene has been reported in many tumors, and hereditary mutations in this gene increase the change of developing a widerange of cancers. Colorectal cancer is the third cause of the cancer-related death in the world. The aim of the study is to determine p53 gene mutation in developing colon cancer among Iranian patients. To understand of the etiology of colon cancer in Iran, we initiated a study to investigate p53 gene mutations among Iranian colon cancer patients. 32 Formalin-fixed, paraffin-embedded colon cancerous tissues with adenocarcinoma diagnosis (after colectomy) and normal tissue adjacent to tumor were collected for analysis from cancer patients in the Cancer Institute of Tehran. No patient had been given chemotherapy or radiotherapy before the operation. The p53 gene mutations were determined by direct DNA sequencing after DNA extraction and doing PCR for each sample. We found a tandem mutation at codon 168 (CAC>TAC then TAC>TGC) in tumor tissue. In previous study, we showed that surrounding sequences of mutated p53 gene codons (5’- GT and 5’-GG sequences) are high. In this investigation, our finding suggested that 5’-GT and 5’-GG surrounding sequences of the mutated p53 gene codons may play an important role in developing the p53 gene modification and mutation. This hypothesis needs in vitro investigation for confirmation.
Cancer genetics P06.155 New roles for pharmacogenetics in metastatic colorectal cancer G. Previtali 1 , D. Marchetti 1 , A. R. Lincesso 1 , D. Barachetti 1 , L. Pezzoli 1 , R. Labianca 2 , M. Barberis 3 , M. Iascone 1 ; 1 Genetica Molecolare - USSD Lab. Genetica Medica, Ospedali Riuniti, Bergamo, Italy, 2 Dipartimento Oncologico, Ospedali Riuniti, Bergamo, Italy, 3 Anatomia Patologica, Ospedali Riuniti, Bergamo, Italy. The epidermal growth factor receptor (EGFR) plays an important role in tumorigenesis of colorectal cancer. Anti-EGFR monoclonal antibodies have been shown to be helpful in the treatment of patients with metastatic CRC (mCRC). Recent data indicate that kRAS mutations are an independent, negative, predictive marker for response to anti- EGFR agents. The aim of this study is to compare sequencing analysis and a commercial kit for kRAS mutation detection. Genomic DNA was extracted from archival tumour sections of 27 patients affected by mCRC. KRAS analysis was carried out by sequencing of exon 2 and realtime PCR (commercial kit) to identify somatic mutations located in codons 12 and 13 (Gly12Asp, Gly12Ala, Gly12Val, Gly12Ser, Gly12Arg, Gly12Cys, and Gly13Asp). In 2 cases DNA was poor and both methods failed, probably due to old-aged. We found 10 mutated cases (10/25, 40%): 5 mutations detected by both methods, 3 samples not analysable by commercial kit and 2 cases mutated for sequencing alone (both Gly13Asp). The remaining 15 cases resulted wt by sequencing and 6 of these were not analysable by commercial kit (6/15, 40%). Our results show that sequencing is the most reliable technique to detect kRAS mutations. The commercial kit has an elevate rate of failure (48%) and gives two false negative results. kRAS mutation status might allow the identification of patients who are likely to benefit from anti-EGFR agents and avoid a costly and potentially toxic administration of this treatment in nonresponder patients, that can be treated with a different therapy. P06.156 two novel variants of the PML gene in breast and colon cancer patients N. Jurčková 1 , P. Plevová 1 , S. Walczysková 1 , I. Ježíšková 1 , A. Křepelová 2 , A. Puchmajerová 2 , L. Foretová 3 , E. Šilhánová 1 ; 1 Faculty Hospital of Ostrava, Ostrava, Czech Republic, 2 2nd Medical Faculty of Charles University, Prague, Czech Republic, 3 Masaryk Memorial Cancer Institute, Brno, Czech Republic. The PML (promyelocytic leukemia) gene is an important tumor suppressor, that encodes the PML protein. The PML protein is concentrated in special subnuclear structures, the so-called PML nuclear domains and it plays a role in the formation and stability of these domains. PML harmonically coordinates and controls transcription, antiviral response, DNA damage repair, senescence, induction of apoptosis and growth arrest. We were testing the hypothesis, that germline disruption of the PML gene may predispose to an increased risk of the cancer development. We used direct sequencing for mutation screening in 17 colon and 22 breast cancer patients. We have found, among others, two novel single nucleotide substitutions, c.83C>T (p.T28I) within exon 1 in a 42-years old female breast cancer patient and c.1558C>T (p.P520S) within exon 6 in a 32-years old male colon cancer patient. We have performed a population study in 100 and 214 non-cancer patients, respectively, using the RT-PCR method, in order to detect the frequency of these novel variants in general population. None of the variants was found in any non-cancer patients. In conclusion, we have found two rare novel missense variants in the PML gene. Their pathogenicity is uncertain, however, with respect to fact, that they were found only in cancer patients, they may be associated with an increased risk of the cancer. Acknowledgements: The work was supported by IGA MZ ČR, project No. NR/9092-3. P06.157 PMS -PMS CL-”hybrid”-alleles containing pseudogene-specific sequence variants have a high prevalence but no apparent functional effect on colorectal cancer susceptibility C. Ganster 1 , N. Rahner 2 , L. Messiaen 3 , J. Necker 4 , C. Fonatsch 1 , J. Zschocke 5 , K. Wimmer 5 ; 1 Medical University Vienna, Vienna, Austria, 2 University of Bonn, Bonn, Ger- many, 3University of Alabama at Birmingham, Birmingham, AL, United States, 4 5 University Basel, Basel, Switzerland, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck, Austria. PMS2 and its pseudogene PMS2CL, share paralogous exons 9 and 11-15 and are embedded in an inverted duplication on chromosome 7p22. Sequence exchange between duplicons may lead to functional PMS2-“hybrid”-alleles containing PMS2-specific sequence variants at the 5’- and PMS2CL-specific variants at the 3’-ends. The reference sequences thus cannot be relied upon to distinguish between gene and pseudogene. We previously reported an RNA-based assay that allows reliable mutation analysis and unequivocal identification of PMS2-“hybrid”-alleles. We now found that overall “hybrid” alleles account for one third of 300 PMS2 alleles in control individuals. Depending on the population 14-60% of “hybrid”-alleles carry PMS2CL-specific sequences in exons 13-15, the remainder only in exon 15. Analysis of associated polymorphisms revealed that exons 13-15 “hybrid”-alleles constitute four different haplotypes but involve the same breakpoint and appear to trace back to a single ancient founder event. We identified one sequence variant specific for all exons 13-15 “hybrid”-allele and developed a simple gDNA-PCR assay that can be used to identify carriers of “hybrid”-alleles with high sensitivity and specificity (100% and 98%, respectively). This test may render PMS2 mutation analysis in diagnostic laboratories more reliable. Exon 13-15 “hybrid”-alleles harbour a missense variant of so far unknown functional significance, and we used the novel assay to determine “hybrid”-allele carrier frequency in colorectal cancer patients. We found no significant difference in allele frequencies between patients and controls, indicating that the missense variant is unlikely to play a major role with regard to colorectal cancer susceptibility. P06.158 case report of cRc family with two substitutions in APc gene R. Sitkova1 , A. Boday1 , K. Kyselova1 , P. Falt2 , P. Fojtik2 , M. Kliment2 , P. Riedlova1 , E. Prusova1 , S. Tavandzis1 ; 1 2 JG Mendel Cancer Centre, Novy Jicin, Czech Republic, Digestive Diseases Centre, Vitkovice Hospital a.s., Ostrava, Czech Republic. Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of hundreds to thousands colorectal adenomatous polyps and several clinical manifestations. FAP is known as a colorectal cancer predisposition syndrome and is caused by a mutation in the tumor-supressor APC gene which often leads to creation of truncated APC protein. In this report we demonstrate case of 3 generation family from our group of CRC patients. Proband, 30-year old woman, was involved in extensive colorectal carcinoma and after detailed clinical examination and pedigree assembly it was confirmed FAP diagnosis. Subsequently it was performed analysis of APC gene with detection of 2 substitutions - causal mutation c.2413C>T (p.Arg805X) and mutation c.7504G>A (p.Gly2502Ser) with unexplained influence on FAP genesis. It occurs comparatively a lot of relatives with various diagnosis of cancer in the proband´s family and there are also 7 children in risk. Our aim was to make APC gene analysis of this children and other living proband´s relatives to determine whether this substitions occur on one allele of APC gene together or on two alleles separately. This molecular results are important for determination of the FAP manifestation risk and for selection of family members for preventive oncological monitoring. P06.159 Zoom-in cGH-array to better characterize germline large rearrangements involving APc gene in FAP French families E. Rouleau1 , A. Lagarde2 , S. Tozlu-Cara1 , V. Bourdon3 , C. Andrieu1 , T. Noguchi3 , R. Sauvan3 , F. Eisinger3 , L. Huiart3 , R. Lidereau1 , H. Sobol3 , S. Olschwang2 ; 1 2 Centre René Huguenin, St Cloud, France, Institut Paoli-Calmettes, CRCM UMR891, Marseille, France, 3Institut Paoli-Calmettes, Département d’oncogénétique, Marseille, France. Familial Adenomatous Polyposis is caused by germline mutations in the APC gene. Most mutations are point mutations or small insertions/ deletions. Six to 12% of FAP patients carry a large deletion within the APC gene, which encompass one to all exons. Until now, most articles reported large deletions without precisely characterize the breakpoints and/or the mechanism. Here, we aimed to assess the proportion of 0
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Page 157 and 158: Prenatal and perinatal genetics P05
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Page 171 and 172: Cancer genetics P06.005 tiling reso
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Page 175 and 176: Cancer genetics chronic inflammatio
Page 177 and 178: Cancer genetics licular thyroid can
Page 179 and 180: Cancer genetics also studied. In 31
Page 181 and 182: Cancer genetics tile polyposis. We
Page 183 and 184: Cancer genetics Upon recombinant ex
Page 185 and 186: Cancer genetics variant allele was
Page 187 and 188: Cancer genetics from patients with
Page 189 and 190: Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
Page 193 and 194: Cancer genetics of the ZIC gene fam
Page 195 and 196: Cancer genetics Materials and metho
Page 197 and 198: Cancer genetics the past and it is
Page 199 and 200: Cancer genetics P06.130 spectrum an
Page 201 and 202: Cancer genetics P06.139 the role of
Page 203: Cancer genetics and MSH2 germline m
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Page 209 and 210: Cancer genetics val (DFI) than pati
Page 211 and 212: Cancer genetics is hTERC gene ampli
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Page 219 and 220: Cancer cytogenetics P07.08 molecula
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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